Bony Congenital Nasolacrimal Duct Obstruction: A Novel Phenotype of Aplasia of Lacrimal and Major Salivary Glands.
Feng ZX, Liu W, Li Z, Cui Y, Li L, Zhang C.
Ophthalmology. 2024 May;131(5):589-594. doi: 10.1016/j.ophtha.2023.12.003. Epub 2023 Dec 9.
Congenital absence of salivary and lacrimal glands accompanied by growth and development retardation.
Gok F, Mutlu FM, Sari E, Demirkaya E, Altinsoy HI, Bernd W.
J Pediatr Ophthalmol Strabismus. 2010 May 21;47 Online:e1-3. doi: 10.3928/01913913-20100324-07.
Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice-site mutation.
Freund O, Elsana B, Agam N, Jean MM, Safran A, Poleg T, Roguin N, Gradstein L, Tsumi E, Birk OS.
Am J Med Genet A. 2023 Nov;191(11):2768-2774. doi: 10.1002/ajmg.a.63359. Epub 2023 Aug 24.
Fgf10: a paracrine-signaling molecule in development, disease, and regenerative medicine.
Itoh N, Ohta H.
Curr Mol Med. 2014 May;14(4):504-9. doi: 10.2174/1566524014666140414204829.
Complete agenesis of major salivary glands.
Berta E, Bettega G, Jouk PS, Billy G, Nugues F, Morand B.
Int J Pediatr Otorhinolaryngol. 2013 Oct;77(10):1782-5. doi: 10.1016/j.ijporl.2013.07.025. Epub 2013 Aug 28.
FGF signalling in craniofacial development and developmental disorders.
Nie X, Luukko K, Kettunen P.
Oral Dis. 2006 Mar;12(2):102-11. doi: 10.1111/j.1601-0825.2005.01176.x.
New pathogenic variant in the FGF10 gene in the agenesis of lacrimal and salivary gland syndrome: Ophthalmological and genetic study.
Rodrigo MJ, Idoipe M, Izquierdo S, Satue M, Mateo A, Sanchez A, Garcia-Martin E, Pablo L.
Ophthalmic Genet. 2018 Jan-Feb;39(1):125-128. doi: 10.1080/13816810.2017.1381976. Epub 2017 Oct 20.
Novel FGF10 mutation in autosomal dominant aplasia of lacrimal and salivary glands.
Seymen F, Koruyucu M, Toptanci IR, Balsak S, Dedeoglu S, Celepkolu T, Shin TJ, Hyun HK, Kim YJ, Kim JW.
Clin Oral Investig. 2017 Jan;21(1):167-172. doi: 10.1007/s00784-016-1771-x. Epub 2016 Mar 9.
FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).
Entesarian M, Dahlqvist J, Shashi V, Stanley CS, Falahat B, Reardon W, Dahl N.
Eur J Hum Genet. 2007 Mar;15(3):379-82. doi: 10.1038/sj.ejhg.5201762. Epub 2007 Jan 10.
Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children.
Schütz K, Schmidt A, Schwerk N, Renz DM, Gerard B, Schaefer E, Antal MC, Peters S, Griese M, Rapp CK, Engels H, Cremer K, Bergmann AK, Schmidt G, Auber B, Kamp JC, Laenger F, von Hardenberg S.
Pediatr Pulmonol. 2023 Nov;58(11):3095-3105. doi: 10.1002/ppul.26627. Epub 2023 Aug 10.
